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Results for "SMARCA2"

Variant Events: 53

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
SMARCA2     B0154chr9:
2086856-2086856
GAexonicDe novononsynonymous SNVNM_001289396
NM_001289397
NM_003070
NM_139045
c.G2554A
c.G2554A
c.G2554A
c.G2554A
p.E852K
p.E852K
p.E852K
p.E852K
33.0-Xiong2019 ET
SMARCA2     1-0045-004chr9:
2326058-2326058
GAintergenicDe novo--Yuen2017 G
SMARCA2     B0153chr9:
2110355-2110355
GAexonicDe novononsynonymous SNVNM_001289396
NM_001289397
NM_003070
NM_139045
c.G3394A
c.G3220A
c.G3394A
c.G3394A
p.G1132S
p.G1074S
p.G1132S
p.G1132S
35.0-Xiong2019 ET
SMARCA2     B0339chr9:
2086866-2086866
GAexonicDe novononsynonymous SNVNM_001289396
NM_001289397
NM_003070
NM_139045
c.G2564A
c.G2564A
c.G2564A
c.G2564A
p.R855Q
p.R855Q
p.R855Q
p.R855Q
34.0-Xiong2019 ET
SMARCA2     2-1305-003chr9:
2494512-2494512
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
SMARCA2     Mahjani2021:30chr9:
2073213-2073213
CTexonicnonsynonymous SNVNM_001289396
NM_001289397
NM_003070
NM_139045
c.C1748T
c.C1748T
c.C1748T
c.C1748T
p.P583L
p.P583L
p.P583L
p.P583L
22.0-Mahjani2021 E
SMARCA2     3F899chr9:
2104169-2104169
GCexonicDe novononsynonymous SNVNM_001289396
NM_001289397
NM_003070
NM_139045
c.G3292C
c.G3118C
c.G3292C
c.G3292C
p.G1098R
p.G1040R
p.G1098R
p.G1098R
25.1-Satterstrom2020 E
SMARCA2     2-1438-003chr9:
2316962-2316962
CTintergenicDe novo--Yuen2017 G
SMARCA2     ASC_CA_181_Achr9:
2115855-2115855
GTexonicDe novononsynonymous SNVNM_001289396
NM_001289397
NM_003070
NM_139045
c.G3490T
c.G3316T
c.G3490T
c.G3490T
p.G1164W
p.G1106W
p.G1164W
p.G1164W
21.2-Satterstrom2020 E
SMARCA2     Ishay2021:31chr9:
2039778-2039780
AGCAexonicInheritedframeshift deletionNM_001289396
NM_001289397
NM_003070
NM_139045
c.669_670del
c.669_670del
c.669_670del
c.669_670del
p.Q223fs
p.Q223fs
p.Q223fs
p.Q223fs
--Ishay2021 E
SMARCA2     AU2410302chr9:
2049294-2049294
CGintronicDe novo--Yuen2017 G
SMARCA2     Mahjani2021:43chr9:
2110399-2110399
CAexonicnonsynonymous SNVNM_001289396
NM_001289397
NM_003070
NM_139045
c.C3438A
c.C3264A
c.C3438A
c.C3438A
p.S1146R
p.S1088R
p.S1146R
p.S1146R
17.77-Mahjani2021 E
SMARCA2     1-0579-003chr9:
2451183-2451183
AGintergenicDe novo--Yuen2017 G
SMARCA2     3-0246-000chr9:
2018383-2018383
GAintronicDe novo--Yuen2017 G
SMARCA2     3-0018-000chr9:
2521383-2521383
CTintergenicDe novo--Yuen2017 G
SMARCA2     AU3057301chr9:
2418946-2418946
GTintergenicDe novo--Yuen2017 G
SMARCA2     2-1364-003chr9:
2475651-2475651
TCintergenicDe novo--Yuen2017 G
SMARCA2     PN400581chr9:
2182234-2182234
GAexonicUnknownnonsynonymous SNVNM_001289398
NM_001289399
NM_001289400
NM_001289397
NM_139045
NM_001289396
NM_003070
c.G427A
c.G511A
c.G517A
c.G4225A
c.G4399A
c.G4453A
c.G4453A
p.G143R
p.G171R
p.G173R
p.G1409R
p.G1467R
p.G1485R
p.G1485R
19.95-Leblond2019 E
SMARCA2     2-1690-003chr9:
2184861-2184867
TCGCGCGTCGCGintronicDe novo--Yuen2017 G
SMARCA2     AU008505chr9:
2501291-2501291
TAintergenicDe novo--Yuen2017 G
SMARCA2     2-1456-004chr9:
2207938-2207938
TCintergenicDe novo--Yuen2017 G
SMARCA2     2-1456-004chr9:
2203839-2203839
TGintergenicDe novo--Yuen2017 G
SMARCA2     2-1456-004chr9:
2198906-2198906
GAintergenicDe novo--Yuen2017 G
SMARCA2     2-1456-004chr9:
2196367-2196367
TAintergenicDe novo--Yuen2017 G
SMARCA2     PN400582chr9:
2182234-2182234
GAexonicUnknownnonsynonymous SNVNM_001289398
NM_001289399
NM_001289400
NM_001289397
NM_139045
NM_001289396
NM_003070
c.G427A
c.G511A
c.G517A
c.G4225A
c.G4399A
c.G4453A
c.G4453A
p.G143R
p.G171R
p.G173R
p.G1409R
p.G1467R
p.G1485R
p.G1485R
19.95-Leblond2019 E
SMARCA2     Chen2021:69chr9:
2110355-2110355
GAexonicDe novononsynonymous SNVNM_001289396
NM_001289397
NM_003070
NM_139045
c.G3394A
c.G3220A
c.G3394A
c.G3394A
p.G1132S
p.G1074S
p.G1132S
p.G1132S
35.0-Chen2021 GET
SMARCA2     Chen2021:68chr9:
2086866-2086866
GAexonicDe novononsynonymous SNVNM_001289396
NM_001289397
NM_003070
NM_139045
c.G2564A
c.G2564A
c.G2564A
c.G2564A
p.R855Q
p.R855Q
p.R855Q
p.R855Q
34.0-Chen2021 GET
SMARCA2     2-0318-004chr9:
2293528-2293528
TCintergenicDe novo--Yuen2017 G
SMARCA2     5-0138-003chr9:
2192969-2192969
TCUTR3De novo--Yuen2017 G
SMARCA2     Chen2021:67chr9:
2086856-2086856
GAexonicDe novononsynonymous SNVNM_001289396
NM_001289397
NM_003070
NM_139045
c.G2554A
c.G2554A
c.G2554A
c.G2554A
p.E852K
p.E852K
p.E852K
p.E852K
33.0-Chen2021 GET
SMARCA2     1-0385-003chr9:
2335451-2335451
GAintergenicDe novo--Yuen2017 G
SMARCA2     1-0180-004chr9:
2147841-2147841
CTintronicDe novo--Yuen2017 G
SMARCA2     5-0088-003chr9:
2394783-2394783
CGintergenicDe novo--Yuen2017 G
SMARCA2     AU3517301chr9:
2320407-2320407
GAintergenicDe novo--Yuen2017 G
SMARCA2     2-0208-003chr9:
2387156-2387156
AGintergenicDe novo--Yuen2017 G
SMARCA2     2-0043-003chr9:
2481673-2481673
TCintergenicDe novo--Yuen2017 G
SMARCA2     2-1477-003chr9:
2208624-2208624
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
SMARCA2     1-0757-003chr9:
2123493-2123499
TATGAATTATintronicDe novo--Yuen2017 G
SMARCA2     7-0001-003chr9:
2060465-2060465
GAintronicDe novo--Yuen2017 G
SMARCA2     3-0080-000chr9:
2478607-2478607
CTintergenicDe novo--Yuen2016 G
SMARCA2     Li2017:23792chr9:
2077677-2077678
CACexonicUnknownframeshift deletionNM_001289396
NM_001289397
NM_003070
NM_139045
c.2086delA
c.2086delA
c.2086delA
c.2086delA
p.R696fs
p.R696fs
p.R696fs
p.R696fs
--Li2017 T
SMARCA2     2-0295-004chr9:
2113090-2113090
AGintronicDe novo--Yuen2017 G
SMARCA2     2-1406-003chr9:
2128704-2128704
TCintronicDe novo--Yuen2016 G
Yuen2017 G
SMARCA2     1-0466-003chr9:
2060024-2060024
TGintronicDe novo--Yuen2017 G
SMARCA2     3-0447-000chr9:
2159543-2159547
CTTAACintronicDe novo--Yuen2016 G
SMARCA2     1-0161-004chr9:
2291744-2291744
CTintergenicDe novo--Yuen2017 G
SMARCA2     AU2089302chr9:
2161750-2161750
GAexonicDe novononsynonymous SNVNM_001289398
NM_001289399
NM_001289400
NM_001289396
NM_001289397
NM_003070
NM_139045
c.G74A
c.G158A
c.G164A
c.G4046A
c.G3872A
c.G4046A
c.G4046A
p.R25Q
p.R53Q
p.R55Q
p.R1349Q
p.R1291Q
p.R1349Q
p.R1349Q
18.12-Yuen2017 G
SMARCA2     AU009805chr9:
2466044-2466044
TCintergenicDe novo--Yuen2017 G
SMARCA2     1-0259-005chr9:
2225385-2225385
CGintergenicDe novo--Yuen2017 G
SMARCA2     AU3636302chr9:
2112736-2112736
AGintronicDe novo--Yuen2017 G
SMARCA2     1-0652-003chr9:
2040341-2040341
AGintronicDe novo--Yuen2017 G
SMARCA2     1-0553-003chr9:
2262213-2262213
TCintergenicDe novo--Yuen2017 G
SMARCA2     1-0772-003chr9:
2334886-2334886
CTintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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